Canonical Allele Identifier: CA1394296
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1614583
ClinVar RCV Id: RCV002073902
dbSNP Id: rs778121081
ExAC: 1:215990366 T / C
gnomAD v2: 1-215990366-T-C
gnomAD v4: 1-215817024-T-C
MyVariant Identifiers: chr1:g.215990366T>C (hg19) chr1:g.215817024T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215817024T>C , CM000663.2:g.215817024T>C GRCh38
NC_000001.10:g.215990366T>C , CM000663.1:g.215990366T>C GRCh37
NC_000001.9:g.214056989T>C NCBI36
NG_009497.1:g.611373A>G
NG_009497.2:g.611425A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.9543A>G MANE Select ENSP00000305941.3:p.Gly3181=
ENST00000674083.1:c.9543A>G ENSP00000501296.1:p.Gly3181=
ENST00000307340.7:c.9543A>G ENSP00000305941.3:p.Gly3181=
NM_206933.2:c.9543A>G NP_996816.2:p.Gly3181=
NM_206933.3:c.9543A>G NP_996816.2:p.Gly3181=
NM_206933.4:c.9543A>G MANE Select NP_996816.3:p.Gly3181=
Search 100 bp 5'
Search 100 bp 3'